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Detailed information for vg0205347460:

Variant ID: vg0205347460 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 5347460
Reference Allele: TCTCAAlternative Allele: T
Primary Allele: TCTCASecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGGCGGAGGCCGAGGCGGCGGTGGCGGAGGAGGCGTGCGGGGATTGGAATCGCGAGCTCGGTGCGCGTGGTGGCGTCTCCTCTCTCTCTCTCTCTCTCTC[TCTCA/T]
CTCTCTCTCTTCAGGGGAAGGTGGGGGTGGGGGGAGAGAGAGACACTGATAAAAAAGAAAGCCCCCGATGGCGACGGGGAAATTACCGGTTTGCCCCTCG

Reverse complement sequence

CGAGGGGCAAACCGGTAATTTCCCCGTCGCCATCGGGGGCTTTCTTTTTTATCAGTGTCTCTCTCTCCCCCCACCCCCACCTTCCCCTGAAGAGAGAGAG[TGAGA/A]
GAGAGAGAGAGAGAGAGAGAGGAGACGCCACCACGCGCACCGAGCTCGCGATTCCAATCCCCGCACGCCTCCTCCGCCACCGCCGCCTCGGCCTCCGCCG

Allele Frequencies:

Populations Population SizeFrequency of TCTCA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.40% 0.40% 16.95% 38.30% NA
All Indica  2759 18.80% 0.20% 23.89% 57.16% NA
All Japonica  1512 98.30% 0.10% 0.53% 1.06% NA
Aus  269 8.90% 1.10% 29.74% 60.22% NA
Indica I  595 15.00% 0.00% 20.17% 64.87% NA
Indica II  465 9.90% 0.00% 23.87% 66.24% NA
Indica III  913 22.00% 0.40% 27.60% 49.95% NA
Indica Intermediate  786 23.20% 0.10% 22.39% 54.33% NA
Temperate Japonica  767 98.40% 0.00% 0.52% 1.04% NA
Tropical Japonica  504 99.40% 0.00% 0.40% 0.20% NA
Japonica Intermediate  241 95.90% 0.40% 0.83% 2.90% NA
VI/Aromatic  96 16.70% 9.40% 43.75% 30.21% NA
Intermediate  90 57.80% 0.00% 13.33% 28.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0205347460 TCTCA -> T LOC_Os02g10200.1 5_prime_UTR_variant ; 903.0bp to feature; MODIFIER silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N
vg0205347460 TCTCA -> T LOC_Os02g10200.2 5_prime_UTR_variant ; 903.0bp to feature; MODIFIER silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N
vg0205347460 TCTCA -> T LOC_Os02g10210.1 upstream_gene_variant ; 1259.0bp to feature; MODIFIER silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N
vg0205347460 TCTCA -> T LOC_Os02g10220.1 upstream_gene_variant ; 4006.0bp to feature; MODIFIER silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N
vg0205347460 TCTCA -> T LOC_Os02g10190.1 downstream_gene_variant ; 2943.0bp to feature; MODIFIER silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N
vg0205347460 TCTCA -> DEL N N silent_mutation Average:99.531; most accessible tissue: Minghui63 root, score: 99.784 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0205347460 TCTCA T 0.03 0.04 0.03 0.04 0.05 0.1